Discordant findings in genome-wide non-invasive prenatal testing (GW-NIPT) for rare chromosomal abnormalities, adverse pregnancy outcomes, and maternal malignancies: a systematic review and meta-analysis

Discordant GW-NIPT results are associated with an increased risk of placenta-mediated complications. Among rare autosomal trisomies, trisomy 16 and, to a lesser extent, trisomy 4 consistently showed the highest risks. These results imply that chromosome-specific risk stratification could inform prenatal counseling and follow-up. Additionally, complex, multi-chromosomal GW-NIPT results were occasionally associated with maternal malignancies. This emphasizes the importance of considering both maternal and fetal contributions when interpreting such results.